Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

SEC14 and spectrin domains 1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sestd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sestd1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spina Bifida-Hypospadias Syndrome
Hypospadias, Spina bifida, Spinal dysraphism ORPHA:3176
Caudal Duplication
Cryptorchidism, Spina bifida, Abnormal penis morphology, Spinal cord lesion, Intestinal duplicati... ORPHA:1756
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Lumbar Syndrome
Cryptorchidism, Spina bifida, Ambiguous genitalia, Bifid uterus, Bifid scrotum, Hypoplastic labia... ORPHA:83628
Ambiguous genitalia, Spina bifida, Sirenomelia, Abnormality of the urinary system, Anal atresia, ... ORPHA:3169
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Spina bifida, Anencephaly, Cleft palate ORPHA:2476
Fanconi Anemia, Complementation Group O
Cryptorchidism, External genital hypoplasia, Anal atresia, Hydronephrosis, Renal cyst, Stage 5 ch... OMIM:613390
Anus, Imperforate
Hypospadias, Anal atresia, Ectopic anus OMIM:301800
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesic... OMIM:617805
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia, Hydronephrosis OMIM:235760
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Anal atresia, Nephropathy ORPHA:2408
Schisis Association
Spina bifida, Anencephaly, Anal atresia, Cleft palate, Renal agenesis, Tracheoesophageal fistula ORPHA:63862
Fanconi Anemia, Complementation Group R
Anal atresia, Hydrocephalus OMIM:617244
Cloacal Exstrophy
Spina bifida, Horseshoe kidney, Hydroureter, Intestinal malrotation, Abnormality of the clitoris,... ORPHA:93929
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Isolated Klippel-Feil Syndrome
Spina bifida, Ectopic anus, Anal atresia, Cleft palate, Renal hypoplasia/aplasia ORPHA:2345
Macdermot-Winter Syndrome
Hypoplastic male external genitalia, Death in infancy, Hydronephrosis OMIM:247990
Holoprosencephaly, Spina bifida, Hydrocephalus, Cleft palate ORPHA:945
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula, Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral dysgenesis, Anal atresia, Ureteral agenesis OMIM:274265
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Non-Syndromic Anorectal Malformation
Rectourethral fistula, Rectal fistula, Hydrocolpos, Persistent cloaca, Ectopic anus, Rectovaginal... ORPHA:557
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Anal atresia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Oeis Complex
Cryptorchidism, Bifid uterus, Duplicated colon, Hydroureter, Duplicated collecting system, Intest... OMIM:258040
Anal Sphincter Myopathy, Internal
Abnormality of the anus OMIM:105565
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Intestinal malrotation, Multicystic kidney dysplasia, Abno... ORPHA:2973
Czeizel-Losonci Syndrome
Spina bifida, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis, Spina bif... ORPHA:2437
Axial Mesodermal Dysplasia Spectrum
Abnormal morphology of female internal genitalia, Morphological abnormality of the gastrointestin... ORPHA:1834
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Anal atresia, Myelomeningocele ORPHA:63260
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the clitoris, Umbilical hernia, Abnormality of... ORPHA:93930
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Anal atresia, Hydronephrosis, Tracheoesophageal fistula, Hydro... OMIM:314390
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Radial Aplasia, X-Linked
Penile hypospadias, Anal atresia, Hydrocephalus OMIM:312190
Exstrophy-Epispadias Complex
Cryptorchidism, Bladder duplication, Bifid uterus, Vesicoureteral reflux, Bladder exstrophy, Rena... ORPHA:322
Thoraco-Abdominal Enteric Duplication
Meningocele, Duodenal stenosis, Diastomatomyelia, Intestinal malrotation ORPHA:1759
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Image Syndrome
Hypogonadism, Hypospadias, Cryptorchidism, Hydronephrosis ORPHA:85173
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Gastroesophageal reflux, Recurrent urinary tract infections, Vesicoureteral r... OMIM:191800
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cryptorchidism, Renal hypoplasia, Dysphagia, Gastroesophageal reflux, Hydronephrosis, Cleft palat... OMIM:618494
Desmoid Tumor
Gastrointestinal hemorrhage, Desmoid tumors, Hydronephrosis, Intestinal polyposis, Abnormality of... ORPHA:873
Chiari Malformation Type Ii
Spina bifida, Dysphagia, Cervical myelopathy, Syringomyelia, Myelomeningocele, Hydrocephalus OMIM:207950
Prune Belly Syndrome
Cryptorchidism, Abnormality of the uterus, Urogenital sinus anomaly, Hydroureter, Decreased testi... ORPHA:2970
Dysmyelination With Jaundice
Cryptorchidism, Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Amish Lethal Microcephaly
Organic aciduria, Spina bifida, Death in infancy, Cleft soft palate ORPHA:99742
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Neural Tube Defects, Susceptibility To
Anencephaly, Urinary incontinence, Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:182940
Diabetic Embryopathy
Cryptorchidism, Abnormal morphology of female internal genitalia, Spinal dysraphism, Hydronephros... ORPHA:1926
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia, Aqueductal stenosis, Anal atresia, Hydrocephalus OMIM:276950
Isolated Hemihyperplasia
Cryptorchidism, Myelomeningocele, Nephroblastoma ORPHA:2128
Acropectorovertebral Dysplasia
Spina bifida, High, narrow palate, Cleft palate ORPHA:957
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Urethral valve, Xerostomia, Anal atresia, Hydronephrosis, Congenital... OMIM:100100
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Cryptorchidism, Anal atresia, Hypoplasia of penis ORPHA:1381
Mosaic Trisomy 14
Cryptorchidism, Cleft palate, Ectopic anus, Hypospadias, High palate, Hypoplasia of penis ORPHA:1703
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Cryptorchidism, Megacystis, Hydroureter, Abnormality of the gastrointestinal tract, Death in infa... ORPHA:2241
Vacterl/Vater Association
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Renal agen... ORPHA:887
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Ectopic anus ORPHA:2866
Myopathy, Congenital, Progressive, With Scoliosis
Cryptorchidism, Renal atrophy, Dysphagia, Hydronephrosis, High palate OMIM:618578
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta ORPHA:64754
Anus, Imperforate
Anal atresia OMIM:207500
Urofacial Syndrome 1
Cryptorchidism, Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infect... OMIM:236730
Multiple renal cysts, Myelomeningocele, Cleft palate ORPHA:66637
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Death in infancy, Hydroureter OMIM:618240
Vacterl With Hydrocephalus
Cryptorchidism, Spina bifida, Renal agenesis, Arrhinencephaly, Esophageal atresia, Aqueductal ste... ORPHA:3412
Mosaic Trisomy 9
Cryptorchidism, Spina bifida, Multiple renal cysts, Horseshoe kidney, Abnormality of the uterus, ... ORPHA:99776
Hemihyperplasia, Isolated
Myelomeningocele, Nephroblastoma OMIM:235000
Townes-Brocks Syndrome 2
Bifid uterus, Crossed fused renal ectopia, Rectovaginal fistula, Anal atresia, Spina bifida occul... OMIM:617466
Trisomy 20P
Cryptorchidism, Spina bifida, Multiple renal cysts, Macroorchidism, Umbilical hernia, Abnormality... ORPHA:261318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Anencephaly, Renal dysplasia, Renal cyst, Hydronephrosis, Decreased testicular size, Micropenis, ... OMIM:615287
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Intestinal pseudo-obstruction, Hydronephrosis, Congenital shortened small... OMIM:300048
Cerebrocostomandibular Syndrome
Spina bifida, Death in infancy, Multicystic kidney dysplasia, Meningocele, Hydranencephaly, Gloss... ORPHA:1393
Spina bifida, Holoprosencephaly, Spinal dysraphism, Anencephaly, Duodenal atresia, Anal atresia, ... ORPHA:63259
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Non-Syndromic Posterior Hypospadias
Cryptorchidism, Bifid scrotum, Esophageal atresia, Ventral shortening of foreskin, Urethral diver... ORPHA:95706
Orofaciodigital Syndrome Xv
Hydronephrosis, Lobulated tongue OMIM:617127
Ritscher-Schinzel Syndrome 1
Anal atresia, Hydronephrosis, Cleft palate, Hypospadias, Hydrocephalus OMIM:220210
Cryptorchidism, Ambiguous genitalia, Macroglossia, Holoprosencephaly, Intestinal malrotation, Men... ORPHA:3376
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Ectopic anus, Polycystic ovaries ORPHA:1643
Distal Monosomy 13Q
Ambiguous genitalia, Holoprosencephaly, Anencephaly, Anal atresia, Renal hypoplasia/aplasia ORPHA:1590
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Midshaft hypospadias, Anal atresia, High palate, Renal hypoplasia/aplasia ORPHA:2863
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Spina bifida, Hydranencephaly, Hydronephrosis, Microglossia, Cleft palate, H... ORPHA:2839
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia OMIM:246000
Penile Agenesis
Unilateral renal hypoplasia, Cryptorchidism, Ambiguous genitalia, Hydroureter, Bilateral renal ag... ORPHA:49
6P22 Microdeletion Syndrome
Hydronephrosis, Hydrocephalus ORPHA:251046
Johanson-Blizzard Syndrome
Abnormal vagina morphology, Death in infancy, Anteriorly placed anus, Anal atresia, Hydronephrosi... ORPHA:2315
Distal Monosomy 10P
Cryptorchidism, Polycystic ovaries, Ectopic anus, Anal atresia, Cleft palate, Hypoplasia of penis ORPHA:1580
X-Linked Intellectual Disability, Schimke Type
High palate, Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Pagod Syndrome
Abnormal morphology of female internal genitalia, Spina bifida, Abnormality of the uterus, Ambigu... ORPHA:991
Anophthalmia Plus Syndrome
Spina bifida, Bilateral cleft lip and palate, Cleft palate ORPHA:1104
3C Syndrome
Gastroesophageal reflux, Death in infancy, Intestinal malrotation, Cleft palate, Ectopic anus, An... ORPHA:7
Waardenburg Syndrome Type 1
Meningocele, Spina bifida, Aganglionic megacolon, Cleft palate ORPHA:894
Bnar Syndrome
Renal agenesis, Anteriorly placed anus, Anal stenosis ORPHA:217266
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Spina bifida ORPHA:1327
Trisomy 1Q
Cryptorchidism, Ambiguous genitalia, Congenital megaureter, Scrotal hypoplasia, Multicystic kidne... ORPHA:261344
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Caudal Regression Sequence
Cryptorchidism, Ambiguous genitalia, Renal agenesis, Arrhinencephaly, Abnormality of the ureter, ... ORPHA:3027
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424019
Duplication Of Urethra
Bladder duplication, Chordee, Recurrent urinary tract infections, Vesicoureteral reflux, Coronal ... ORPHA:237
Mckusick-Kaufman Syndrome
Glandular hypospadias, Cryptorchidism, Urogenital sinus anomaly, High palate, Aganglionic megacol... ORPHA:2473
Absence Deformity Of Leg-Cataract Syndrome
Anal atresia ORPHA:2310
Blepharocheilodontic Syndrome 1
Anal atresia, Neural tube defect OMIM:119580
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Hypertrophy of the urinary bladder, Renal hypoplasia, Renal dysplasia, Anal... OMIM:601389
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Horseshoe kidney, Vaginal fistula OMIM:619318
Bor Syndrome
Renal insufficiency, Branchial cyst, Multicystic kidney dysplasia, Ureteropelvic junction obstruc... ORPHA:107
Xk Aprosencephaly Syndrome
Anal atresia, Abnormal external genitalia ORPHA:3469
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Anal stenosis, Bicornuate uterus, Rectovaginal fistula, Vesicoureteral reflux, Spina bifida occul... OMIM:300707
Imagawa-Matsumoto Syndrome
Cryptorchidism, Anteriorly placed anus, Umbilical hernia OMIM:618786
Ochoa Syndrome
Cryptorchidism, Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, V... ORPHA:2704
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal la... ORPHA:2198
Cat-Eye Syndrome (Type I)
Anal atresia DECIPHER:42
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydroureter, Aganglionic megacolon, Rectovaginal fistu... OMIM:236700
Cryptorchidism, Duplicated colon, Renal malrotation, Horseshoe kidney, Bifid scrotum, Abnormality... ORPHA:227
Trisomy 18
Cryptorchidism, Spina bifida, Abnormal morphology of female internal genitalia, Narrow palate, Ho... ORPHA:3380
Bresek Syndrome
Cryptorchidism, Hypoplasia of the bladder, Renal hypoplasia, Aganglionic megacolon, Renal dysplas... ORPHA:85284
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Cryptorchidism, Hydronephrosis, Spina bifida occulta OMIM:618060
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Esophageal atresia, Anal atresia, Cleft palate, Tracheoesophageal fistula, Micr... OMIM:614083
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias, Bifid cl... OMIM:600057
Posterior Urethral Valve
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... ORPHA:93110
Meckel Syndrome, Type 2
Meningocele, Renal cyst, Anencephaly, Cleft palate OMIM:603194
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Cervical spina bifida, Male pseudohermaphroditism OMIM:600122
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Megacystis, Dysphagia, Gastroesophageal reflux, Intesti... OMIM:619350
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Renal insufficiency, Cleft palate, Hydronephrosis, Hypospadias, High palate OMIM:611209
Fanconi Anemia
Cryptorchidism, Hydroureter, Recurrent urinary tract infections, Bicornuate uterus, Renal insuffi... ORPHA:84
9Q21.13 Microdeletion Syndrome
Cryptorchidism, Abnormal tongue morphology, Hydronephrosis, Syringomyelia, Gastrointestinal dysmo... ORPHA:531151
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux, Cleft palate, Bifid uvula, Tethered cord OMIM:617660
Fryns Syndrome
Cryptorchidism, High palate, Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacol... ORPHA:2059
Focal Facial Dermal Dysplasia 3, Setleis Type
Anal atresia OMIM:227260
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased testicular size, Anal atresia ORPHA:93950
Vater/Vacterl Association
Spina bifida, Renal agenesis, Esophageal atresia, Ureteropelvic junction obstruction, Renal dyspl... OMIM:192350
Distal Tetrasomy 15Q
Hydrocele testis, Horseshoe kidney, Hydrocephalus, Nephroblastoma, Polycystic kidney dysplasia, H... ORPHA:314588
Currarino Syndrome
Neurogenic bladder, Horseshoe kidney, Gastrointestinal obstruction, Anal stenosis, Recurrent urin... OMIM:176450
Visceral Myopathy 1
Megaduodenum, Megacystis, Dysphagia, Aganglionic megacolon, Intestinal pseudo-obstruction, Vesico... OMIM:155310
Abnormal renal morphology, Abnormality of the uterus, Aganglionic megacolon, Esophageal atresia, ... ORPHA:59315
Pallister-Hall Syndrome
Cryptorchidism, Hydroureter, Renal hypoplasia, Holoprosencephaly, Renal dysplasia, Neonatal death... OMIM:146510
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Zellweger Syndrome
Cryptorchidism, Clitoral hypertrophy, High palate, Death in infancy, Pyloric stenosis, Multicysti... ORPHA:912
Jacobsen Syndrome
Cryptorchidism, Spina bifida, Death in infancy, Intestinal malrotation, Multicystic kidney dyspla... ORPHA:2308
Distal Trisomy 15Q
Cryptorchidism, High palate, Anal atresia, Abnormality of female external genitalia ORPHA:1707
Duane-Radial Ray Syndrome
Crossed fused renal ectopia, Renal malrotation, Horseshoe kidney, Anal stenosis, Renal hypoplasia... OMIM:607323
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Unilateral renal agenesis, Hydronephrosis, High palate, Hydrocephalus OMIM:609757
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Absent vas defe... ORPHA:411709
46,Xy Ovotesticular Disorder Of Sex Development
Ambiguous genitalia, Ovotestis, Urogenital sinus anomaly, Bifid scrotum, Chordee, Gonadoblastoma,... ORPHA:325345
Hadziselimovic Syndrome
Renal hypoplasia, High palate, Anal atresia OMIM:612946
Sacral Defect With Anterior Meningocele
Neurogenic bladder, Urinary retention, Rectal abscess, Meningocele OMIM:600145
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Horseshoe kidney, Narrow palate, Umbilical hernia, Protein-losing enteropathy, Re... OMIM:235510
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Ambiguous genitalia, Macroglossia, Gastroesophageal reflux, Recurrent urinary tra... ORPHA:847
Pfeiffer Syndrome Type 3
Horseshoe kidney, Intestinal malrotation, Aqueductal stenosis, Vesicoureteral reflux, Hydronephro... ORPHA:93260
Meckel Syndrome, Type 4
Anencephaly, Meningocele, Renal cyst, Cleft palate, Hydrocephalus OMIM:611134
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Urinary bladder inflammation, Renal dysplasia, Congenital pyloric atresia, Hydronephro... ORPHA:79403
Endove Syndrome, Limb-Only Type
Hypoplastic labia majora, Vesicoureteral reflux, Hydronephrosis, Umbilical hernia OMIM:619217
Trisomy 13
Cryptorchidism, Abnormal morphology of female internal genitalia, Multiple renal cysts, Abnormali... ORPHA:3378
Absent Radius-Anogenital Anomalies Syndrome
Perineal fistula, Rectovaginal fistula, Anal atresia, Rectal atresia, Hydrocephalus ORPHA:3016
Stromme Syndrome
Stillbirth, Intestinal malrotation, Jejunal atresia, Bilateral renal hypoplasia, Duodenal atresia... OMIM:243605
Congenital Alveolar Capillary Dysplasia
Intestinal malrotation, Aganglionic megacolon, Anal atresia, Hydronephrosis, Volvulus, Duodenal s... ORPHA:210122
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Renal cyst, Glossoptosis, Multicystic kidney dysplasia ORPHA:2031
Autosomal Recessive Spondylocostal Dysostosis
Cryptorchidism, Abnormal morphology of female internal genitalia, Umbilical hernia, Abnormality o... ORPHA:2311
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis, Cleft palate OMIM:618265
Fountain Syndrome
Spina bifida, Spina bifida occulta ORPHA:3219
Juberg-Hayward Syndrome
Anteriorly placed anus, Horseshoe kidney OMIM:216100
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Rectovaginal fistula, Intestinal malrotation, Anal atresia OMIM:270420
Thakker-Donnai Syndrome
Rectovaginal fistula, Anal atresia, Hydronephrosis, Tracheoesophageal fistula, Communicating hydr... ORPHA:1780
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Rectovaginal fistula, Anteriorly placed anus OMIM:608980
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Esophagitis, Crossed fused renal ectopia, Horseshoe kidney, Renal agenesis, Perine... ORPHA:2538
15Q24 Microdeletion Syndrome
Cryptorchidism, Microphallus, Anal atresia, Hypospadias, Myelomeningocele, Intestinal atresia ORPHA:94065
Neurocutaneous Melanocytosis
Meningocele, Renal hypoplasia/aplasia, Death in infancy, Syringomyelia ORPHA:2481
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Aminopterin/Methotrexate Embryofetopathy
Holoprosencephaly, Spinal dysraphism, Anencephaly, Meningocele, Cleft palate, Hydrocephalus ORPHA:1908
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Abnormality of the urinary system, Absent external genitalia, P... ORPHA:94095
Feingold Syndrome Type 1
Nephritis, Gastrointestinal atresia, Horseshoe kidney, Esophageal atresia, Jejunal atresia, Renal... ORPHA:391641
Weyers Ulnar Ray/Oligodactyly Syndrome
High palate, Hydronephrosis, Cleft palate OMIM:602418
Renpenning Syndrome
Decreased testicular size, Anal atresia, Cleft palate, Hypospadias, High, narrow palate ORPHA:3242
Waardenburg Syndrome
Abnormality of the uterus, Abnormal vagina morphology, Abnormality of the gastrointestinal tract,... ORPHA:3440
Mental Retardation, Autosomal Dominant 42
Hydronephrosis, Cleft palate OMIM:616973
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Anal stenosis, Umbilical hernia, Hypospadias, Hydrocephalus OMIM:601499
Hereditary Xanthinuria
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... ORPHA:3467
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Cleft palate OMIM:616449
Focal Dermal Hypoplasia
Spina bifida, Horseshoe kidney, Gastroesophageal reflux, Umbilical hernia, Multicystic kidney dys... ORPHA:2092
Even-Plus Syndrome
Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux, Anal atresia, High p... OMIM:616854
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Intestinal malrotation, Vaginal atresia, Vesicou... OMIM:612726
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Renal hypoplasia/aplasia, Hydronephrosis, Cleft palate ORPHA:3305
Trisomy 17P
Macroglossia, Urethral valve, Urethral stenosis, Cleft palate, Hydronephrosis, Polycystic kidney ... ORPHA:261290
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, Anal stenosis, Gastroesophageal reflux, Bladder trabeculation, Ureteral hypopla... OMIM:614080
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Fryns Syndrome
Meckel diverticulum, Cryptorchidism, Renal agenesis, Stillbirth, Bifid scrotum, Arrhinencephaly, ... OMIM:229850
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Umbilical hernia, Hydronephrosis OMIM:619218
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ectopic anus, Cleft palate ORPHA:94066
Mesomelia-Synostoses Syndrome
High, narrow palate, Hydronephrosis, Umbilical hernia, Aplasia/Hypoplasia of the uvula ORPHA:2496
Nail-Patella Syndrome
Spina bifida, Hematuria, Glomerulonephritis, Cleft palate, Nephrotic syndrome, Renal insufficienc... OMIM:161200
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Death in infancy ORPHA:1120
Emanuel Syndrome
Cryptorchidism, Renal hypoplasia, Dysphagia, Gastroesophageal reflux, Unilateral renal agenesis, ... ORPHA:96170
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Aplasia of the uterus, Spina bifida, Horseshoe kidney, Death in infancy, Axi... OMIM:274000
Baller-Gerold Syndrome
Abnormal localization of kidney, Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis... ORPHA:1225
Anorectal Anomalies
Rectovaginal fistula, Anal atresia OMIM:107100
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis OMIM:179613
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Horseshoe kidney, Recurrent urinary tract infections, Unilateral... ORPHA:363444
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Death in infancy, Protein-losing enteropathy, Hydronephrosis, Cleft palate, High ... OMIM:235255
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Dysphagia, Gastroesophageal reflux, Aminoaciduria, Hydronephrosis, High palate OMIM:617913
Emanuel Syndrome
Cryptorchidism, Renal hypoplasia, High palate, Gastroesophageal reflux, Anal atresia, Cleft palat... OMIM:609029
Trypsinogen Deficiency
Anal atresia OMIM:614044
Cutis Laxa, Autosomal Recessive, Type Ic
Gastroesophageal reflux, Umbilical hernia, Bladder diverticulum, Rectal prolapse, Hydronephrosis,... OMIM:613177
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Marden-Walker Syndrome
Renal agenesis, Hydrocephalus, Hydroureter, Abnormal penis morphology, Abnormality of the urinary... ORPHA:2461
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Dysphagia, Testicular atrophy, Hydronephrosis OMIM:222300
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Syringomyelia OMIM:613735
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Vesicoureteral reflux, Cleft palate, Renal hypoplasia/aplasia, Distal urethral dupl... ORPHA:2549
Koolen-De Vries Syndrome
Cryptorchidism, Narrow palate, High, narrow palate, Vesicoureteral reflux, Hydronephrosis, Cleft ... ORPHA:96169
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Duplicated collecting system, Vesicoureteral reflux, Hydronephrosis, Hypospadias,... OMIM:301056
Netherton Syndrome
Malabsorption, Ectopic kidney, Aminoaciduria, Hydronephrosis ORPHA:634
Wildervanck Syndrome
Meningocele ORPHA:3456
Trisomy 8Q
Cryptorchidism, Myelomeningocele, Cleft palate, Bifid tongue, Hypoplasia of penis, High palate, D... ORPHA:1752
22Q11.2 Deletion Syndrome
Cryptorchidism, Spina bifida, Multiple renal cysts, Abnormality of the uterus, Gastrointestinal h... ORPHA:567
Subependymal Nodular Heterotopia
Meningocele, Myelomeningocele ORPHA:101030
Beta-Ureidopropionase Deficiency
Bifid scrotum, Anal atresia, Bladder exstrophy OMIM:613161
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Microphallus, Renal hypoplasia, Scrotal hypoplasia, Umbilical hernia, Vesicourete... OMIM:618454
Humero-Radial Synostosis
Meningocele ORPHA:3265
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Ambiguous genitalia, Holoprosencephaly, Intestinal malrotation, Umbilical hernia,... ORPHA:2166
Posterior Meningocele
Enuresis, Hydromyelia, Meningocele, Occipital meningocele, Neural tube defect, Lipomyelomeningoce... ORPHA:268810
Apert Syndrome
Cryptorchidism, Narrow palate, Esophageal atresia, Ectopic anus, Vaginal atresia, Hydronephrosis,... OMIM:101200
Carpenter Syndrome 1
Cryptorchidism, Hydroureter, Umbilical hernia, External genital hypoplasia, Hydronephrosis, Spina... OMIM:201000
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Cryptorchidism, Scrotal hypoplasia, Hydronephrosis, Hypoplasia of penis ORPHA:2083
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Abnormality of the urinary system, Renal dysplasia, Congenital pyloric atre... ORPHA:158684
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Cryptorchidism, Macroglossia, Renal agenesis, Gastroesophageal reflux, Shawl scrotum, Umbilical h... OMIM:301040
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Gastroesophageal reflux, Intestinal malrotation, Hydronephrosis, Cleft palate ORPHA:457193
Diabetes Insipidus, Neurohypophyseal Type
Polyuria, Hydronephrosis OMIM:304900
Neu-Laxova Syndrome
Ambiguous genitalia, Spina bifida, External genital hypoplasia, Cleft palate, Bifid uvula, Hypogo... ORPHA:2671
Pseudotrisomy 13 Syndrome
Cryptorchidism, Median cleft lip and palate, Renal hypoplasia, Holoprosencephaly, Bicornuate uter... OMIM:264480
Webb-Dattani Syndrome
Neurogenic bladder, Cryptorchidism, Gastroesophageal reflux, Vesicoureteral reflux, Hydronephrosis OMIM:615926
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis ORPHA:1745
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Ectopic anus, Cleft palate ORPHA:2994
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Anal atresia, Hypospadias, An... OMIM:309801
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, High palate, High, narrow palate, Hydronephrosis, Decreased testicular size, Hypo... OMIM:612513
Kleefstra Syndrome Due To A Point Mutation
Abnormality of the kidney, Gastroesophageal reflux, Umbilical hernia, Vesicoureteral reflux, Anal... ORPHA:261652
Xanthinuria, Type I
Pyelonephritis, Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis OMIM:278300
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Anal atresia ORPHA:1436
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Abnormal renal morphology, Abnormality of the uterus, Protein-losing enteropathy,... ORPHA:1655
Phocomelia, Schinzel Type
Cryptorchidism, Meningocele, Cleft palate, Anal atresia, Hypoplasia of penis, High, narrow palate... ORPHA:2879
Septopreoptic Holoprosencephaly
Dysphagia, Anteriorly placed anus, Precocious puberty ORPHA:280195
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia/aplasia, Spinal dysraphism, Tethered cord OMIM:612918
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Dysphagia, Aqueductal stenosis, Meningocele, Syringomyelia, Myelomeningocele,... ORPHA:1136
Opitz Gbbb Syndrome, Type I
Cryptorchidism, Dysphagia, Gastroesophageal reflux, Cleft palate, Anal atresia, Hypospadias, High... OMIM:300000
Cousin Syndrome
Ambiguous genitalia, male, Hydranencephaly, Hydronephrosis, Microglossia, Cleft palate, Ambiguous... OMIM:260660
Limb Body Wall Complex
Abnormality of the kidney, Spina bifida, Short umbilical cord, Anencephaly, Spina bifida occulta,... ORPHA:2369
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Umbilical hernia, Hydronephrosis, High palate, Hydrocephalus OMIM:104350
Hallermann-Streiff Syndrome
Cryptorchidism, Spina bifida, Narrow palate, High palate, High, narrow palate OMIM:234100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Septate vagina, Renal dysplasia, Vaginal atresia, Vesicoureteral reflu... ORPHA:2237
Split Cord Malformation
Neurogenic bladder, Horseshoe kidney, Cervical spina bifida, Hydrocephalus, Spinal cord tumor, Hy... ORPHA:573278
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta OMIM:613686
Meier-Gorlin Syndrome 7
Cryptorchidism, Anal stenosis, Clitoral hypertrophy, High palate, Duodenal stenosis, Vesicoureter... OMIM:617063
Smith-Lemli-Opitz Syndrome
Cryptorchidism, Scrotal hypoplasia, Intestinal malrotation, Bicornuate uterus, Micropenis, Precoc... OMIM:270400
Intellectual Disability, Buenos-Aires Type
High palate, Hydronephrosis, Umbilical hernia ORPHA:3079
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Anal atresia OMIM:309620
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Anal atresia, Precocious puberty OMIM:619243
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia, Anal atresia, Hydrocephalus ORPHA:3301
Kleefstra Syndrome
Cryptorchidism, Macroglossia, Gastroesophageal reflux, Vesicoureteral reflux, Renal cyst, Hydrone... ORPHA:261494
22Q11.2 Duplication Syndrome
Urethral stenosis, Displacement of the urethral meatus, Hydronephrosis, Cleft palate ORPHA:1727
Juberg-Hayward Syndrome
Hypospadias, Anteriorly placed anus, Horseshoe kidney ORPHA:2319
Micro Syndrome
Cryptorchidism, Abnormal localization of kidney, Clitoral hypoplasia, Hypoplastic labia minora, H... ORPHA:2510
Focal Facial Dermal Dysplasia Type Iii
Anal atresia, Abnormality of the upper urinary tract ORPHA:1807
Vitamin K Antagonist Embryofetopathy
Macroglossia, Myelomeningocele, Hydrocephalus ORPHA:1914
Fg Syndrome Type 1
Cryptorchidism, Gastroesophageal reflux, Umbilical hernia, Anal atresia, Malrotation of colon, Ab... ORPHA:93932
Suleiman-El-Hattab Syndrome
Cryptorchidism, High palate, Hydronephrosis OMIM:618950
Tetragametic Chimerism
Cryptorchidism, Ambiguous genitalia, Abnormality of the ovary, Ovotestis, Abnormality of the scro... ORPHA:199310
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Bifid scrotum, High palate, Pyloric stenosis, Penoscrotal transposition, Anenceph... OMIM:619148
Hyperphosphatasia With Mental Retardation Syndrome 2
Anal stenosis, Aganglionic megacolon, Vesicoureteral reflux, Anal atresia, Cleft palate OMIM:614749
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cryptorchidism, Macroglossia, Branchial anomaly, Abnormality of the gastrointestinal tract, Gastr... ORPHA:453499
Dubowitz Syndrome
Cryptorchidism, Anal stenosis, High palate, Rectal prolapse, Hydronephrosis, Abnormality of femal... ORPHA:235
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Cleft palate, Micropenis, Hydronephrosis OMIM:616897
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Enlarged kidney, Intestinal malrotation, Hamartoma of tongue, Renal dysplasi... OMIM:613091
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Horseshoe kidney, Renal agenesis, Clitoral hypertrophy, Bicornuate uterus, Vesicoureteral reflux,... ORPHA:140952
Fraser Syndrome
Urethral atresia, Cryptorchidism, Ambiguous genitalia, Abnormal vagina morphology, Anal stenosis,... ORPHA:2052
Blepharo-Cheilo-Odontic Syndrome
Anal atresia, Bilateral cleft lip and palate ORPHA:1997
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Anal atresia, Hydronephrosis, Aplasia of the uterus,... OMIM:271520
Opitz Gbbb Syndrome
Cryptorchidism, Ankyloglossia, Bifid scrotum, Enlarged ovaries, Dysphagia, High palate, Abnormali... ORPHA:2745
Enlarged Parietal Foramina
Myelomeningocele, Cleft palate ORPHA:60015
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Esophageal varix, Neonatal death, Absence of renal ... OMIM:263200
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Hypoplasia of the bladder, Renal hypoplasia, Recurrent urinary trac... OMIM:614527
Toluene Embryopathy
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Igg4-Related Aortitis
Intestinal obstruction, Hydronephrosis ORPHA:449400
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Anal atresia, Vesicoureteral reflux, Gastroesophageal reflux, Anteriorly placed anus OMIM:600123
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Micropenis, Narrow palate, Hydronephrosis ORPHA:364028
Basal Cell Nevus Syndrome
Spina bifida, Hamartomatous stomach polyps, Ovarian carcinoma, Cleft palate, Ovarian fibroma, Hyd... OMIM:109400
Lateral Meningocele Syndrome
Cryptorchidism, Umbilical hernia, Meningocele, Dural ectasia, Syringomyelia, High palate, High, n... ORPHA:2789
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Cryptorchidism, Hiatus hernia, Abnormal duodenum morphology, Intestinal malrotation, Umbilical he... OMIM:601776
Distal Monosomy 10Q
Horseshoe kidney, Acute kidney injury, Enuresis, Functional abnormality of the bladder, Vesicoure... ORPHA:96148
Tarp Syndrome
Horseshoe kidney, Tongue nodules, Hydronephrosis, Glossoptosis, Cleft palate, High palate OMIM:311900
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
High palate, Hydronephrosis, Cleft palate ORPHA:488613
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Enlarged kidney, High palate, Hydronephrosis, Polycystic kidney dysplasia, Long-ch... OMIM:608836
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Hydronephrosis, Glossoptosis, Cleft palate, Hypospadias, Myelomeningocele, ... ORPHA:90652
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Semilobar holoprosencephaly, Cryptorchidism, Transverse vaginal septum, Hydroureter, Duplicated c... OMIM:129900
Nijmegen Breakage Syndrome
Anal stenosis, Recurrent urinary tract infections, Anal atresia, Hydronephrosis, Cleft palate, Pr... OMIM:251260
Fanconi Anemia, Complementation Group D1
Anal atresia OMIM:605724
Genitopatellar Syndrome
Cryptorchidism, Scrotal hypoplasia, Gastroesophageal reflux, Multicystic kidney dysplasia, Hydron... ORPHA:85201
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hydrocele testis, Hematuria, Acute kidney injury, Renovascu... ORPHA:49041
Lateral Meningocele Syndrome
Cryptorchidism, Umbilical hernia, Meningocele, Dural ectasia, Syringomyelia, High palate OMIM:130720
Opitz-Kaveggia Syndrome
Cryptorchidism, Narrow palate, Anal stenosis, Pyloric stenosis, Intestinal malrotation, Umbilical... OMIM:305450
Raine Syndrome
Hydroureter, Protruding tongue, Neonatal death, Hydronephrosis, Cleft palate, High palate, Hydroc... OMIM:259775
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Hydronephrosis, Bifid uvula, High palate, Anteriorly placed anus ORPHA:247262
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis OMIM:248450
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydronephrosis, Hydrocephalus, Pelvic kidney OMIM:613001
15Q Overgrowth Syndrome
Abnormal renal morphology, Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephro... ORPHA:314585
Down Syndrome
Macroglossia, Narrow palate, Aganglionic megacolon, Umbilical hernia, Protruding tongue, Anal atr... ORPHA:870
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Macroglossia, Albuminuria, Clitoral hypertrophy, High palate, Aminoaciduria, Prot... OMIM:214100
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Aplasia of the vagina OMIM:193500
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, Bifid scrotum, Anal stenosis, Renal hypoplasia, Urethral valve, Gas... OMIM:107480
Campomelic Dysplasia
Sex reversal, Hydronephrosis, Hydrocephalus, Cleft palate OMIM:114290
Musculocontractural Ehlers-Danlos Syndrome
Cryptorchidism, Horseshoe kidney, Malrotation of small bowel, Functional abnormality of the bladd... ORPHA:2953
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Intestinal malrotation, Anal atresia, Hypospadias, High palate OMIM:617602
Neu-Laxova Syndrome 1
Cryptorchidism, Spina bifida, Bifid uterus, Short umbilical cord, Stillbirth, Hydranencephaly, Cl... OMIM:256520
Koolen-De Vries Syndrome Due To A Point Mutation
Cryptorchidism, Spina bifida, Hydrocephalus, Recurrent urinary tract infections, Dural ectasia, V... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cryptorchidism, Spina bifida, Hydrocephalus, Recurrent urinary tract infections, Dural ectasia, V... ORPHA:363958
Fibular Hemimelia
Renal dysplasia, Spina bifida ORPHA:93323
Tetrasomy 12P
Anal atresia, Abnormal soft palate morphology ORPHA:884
Opitz Gbbb Syndrome, Type Ii
Cryptorchidism, Hiatus hernia, Bifid scrotum, Anal stenosis, Dysphagia, High palate, Umbilical he... OMIM:145410
Floating-Harbor Syndrome
Cryptorchidism, Epididymal cyst, Umbilical hernia, Hydronephrosis, Congenital posterior urethral ... OMIM:136140
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Ulcerative colitis, Perianal abscess, Nephrotic syndrome, Crohn's disease, Anal fissure OMIM:618935
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Aplasia/Hypoplasia of the tongue, Hydronephrosis, Glossoptosis, Cleft pala... ORPHA:1358
Ulnar-Mammary Syndrome
Cryptorchidism, Abnormality of the uterus, Renal hypoplasia, Ectopic anus, Anal atresia, Hypoplas... ORPHA:3138
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Anal atresia, Hydronephrosis, Cleft palate, Bifid uvula OMIM:300968
Kabuki Syndrome
Cryptorchidism, Crossed fused renal ectopia, High palate, Duplicated collecting system, Abnormal ... ORPHA:2322
Axenfeld-Rieger Syndrome
Hypospadias, Anal stenosis ORPHA:782
Sifrim-Hitz-Weiss Syndrome
Cryptorchidism, Ambiguous genitalia, Vesicoureteral reflux, Renal insufficiency, Anteriorly place... OMIM:617159
Hyperphosphatasia With Mental Retardation Syndrome 1
Abnormal renal morphology, Abnormal rectum morphology, Aganglionic megacolon, Cleft palate, Anter... OMIM:239300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Horseshoe kidney, Renal agenesis, Renal hypoplasia, Pelvic kidney, Hypospadias ORPHA:508498
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Pyloric stenosis, Anal atresia, Unilateral renal agenesis OMIM:618419
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Noonan Syndrome 12
Anteriorly placed anus OMIM:618624
Dihydropyrimidinase Deficiency
Anal atresia OMIM:222748
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Steatorrhea, Anal atresia, Abnormal... ORPHA:92050
Recombinant 8 Syndrome
Cryptorchidism, Scrotal hypoplasia, Cleft palate, Abnormality of the anus, Hypoplastic male exter... ORPHA:96167
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Megacystis, Transverse vaginal septum, Hydroureter, Duplicated collecting system,... OMIM:604292
Cdags Syndrome
Rectourethral fistula, Rectovaginal fistula, Anal atresia, Cleft palate, Hypospadias OMIM:603116
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Renal agenesis, Stillbirth, Umbilical hernia, Hydronephrosis, Renal hypoplasia/aplasia OMIM:308050
Meckel Syndrome, Type 1
Cryptorchidism, Abnormality of the uterus, Hypoplasia of the bladder, Ambiguous genitalia, male, ... OMIM:249000
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Bilateral cleft lip and palate ORPHA:2003
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Stillbirth, Hydronephrosis, Cleft palate, Hypospadias, Hydrocephalus OMIM:304120
Microphthalmia, Syndromic 9
Cryptorchidism, Horseshoe kidney, Renal malrotation, Renal hypoplasia, Hypoplasia of the uterus, ... OMIM:601186
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Cryptorchidism, Anal atresia, Narrow palate ORPHA:2063
2P15P16.1 Microdeletion Syndrome
Dysphagia, Decreased testicular size, Multicystic kidney dysplasia, Hydronephrosis, High palate, ... ORPHA:261349
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Abnormality of the urinary system, Hydronephrosis, High, narrow palate, Micropeni... ORPHA:96092
Cryptorchidism, Median cleft lip and palate, Branchial anomaly, Holoprosencephaly, Abnormality of... ORPHA:2162
Pfeiffer Syndrome Type 2
Intestinal malrotation, Aqueductal stenosis, Anal atresia, Cleft palate, High palate, Hydrocephalus ORPHA:93259
Cat Eye Syndrome
Renal agenesis, Anal atresia, Intestinal malrotation, Cleft palate OMIM:115470
Aicardi Syndrome
Hiatus hernia, Spina bifida, Cleft palate, Precocious puberty, Hepatoblastoma OMIM:304050
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Ambiguous genitalia, Renal hypoplasia, Anal atresia, Renal cyst, Bifid tongue, Lo... OMIM:616300
Schinzel-Giedion Syndrome
Macroglossia, Dysphagia, High palate, Aganglionic megacolon, Streak ovary, Umbilical hernia, Abno... ORPHA:798
Facial Dysmorphism With Multiple Malformations
Rectovaginal fistula, Anal atresia, Hydronephrosis, Hydrocephalus OMIM:227255
Down Syndrome
Macroglossia, Aganglionic megacolon, Protruding tongue, Anal atresia, Duodenal stenosis OMIM:190685
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydrocele testis, Abnormal renal collecting system morphology, Hydroureter, Hypertrophy of the ur... ORPHA:280633
Noonan Syndrome 4
Cryptorchidism, Ureteral duplication, Hydronephrosis OMIM:610733
Tetraamelia Syndrome 1
Urethral atresia, Hypoplasia of the fallopian tube, Absent external genitalia, Vaginal atresia, A... OMIM:273395
Trisomy 12P
Abnormality of the urinary system, Anal atresia, Cleft palate ORPHA:1699
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Renal cortical cysts, Gastroesophageal reflux, Meningocele, Renal dysplasia,... ORPHA:397715
Meningocele, High palate, Horseshoe kidney, Hypoplasia of penis ORPHA:46059
Darier Disease
Anal mucosal leukoplakia ORPHA:218
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Fetal pyelectasis, Hydronephrosis, Cleft palate, Bifi... ORPHA:264450
Charge Syndrome
Cryptorchidism, Horseshoe kidney, Hypoplastic male external genitalia, Renal hypoplasia, Arrhinen... OMIM:214800
Mosaic Trisomy 8
Cryptorchidism, Decreased testicular size, Vesicoureteral reflux, Hydronephrosis, Cleft palate, H... ORPHA:96061
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Narrow palate, Bifid scrotum, Prominent scrotal raphe, Umbilical hernia, Cleft pa... ORPHA:1555
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Gastroesophageal reflux, Intestinal malrotation, Multicystic kidney dysplasia, Ana... OMIM:300373
Fraser Syndrome 1
Cryptorchidism, Renal hypoplasia, Abnormality of the small intestine, Clitoral hypertrophy, Cleft... OMIM:219000
Mitchell-Riley Syndrome
Intestinal malrotation, Jejunal atresia, Anteriorly placed anus, Duodenal atresia, Malabsorption OMIM:615710
Campomelic Dysplasia
Ambiguous genitalia, Hydronephrosis, Male pseudohermaphroditism, Cleft palate ORPHA:140
7Q11.23 Microduplication Syndrome
Cryptorchidism, High palate, Unilateral renal agenesis, Enuresis, Aplasia/Hypoplasia of the fallo... ORPHA:96121
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Vesicoureteral reflux, Hydronephrosis, Pelvic kidney, High palate, Anteriorly pla... OMIM:618653
Branchio-Oculo-Facial Syndrome
Renal agenesis, High palate, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Hydronephrosis OMIM:619179
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Duplicated collecting system, Hydronephrosis ORPHA:541423
Cooper-Jabs Syndrome
Anteriorly placed anus, Umbilical hernia ORPHA:1488
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cryptorchidism, Gastroesophageal reflux, Unilateral renal agenesis, Duodenal atresia, Renal cyst,... ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Gastroesophageal reflux, Unilateral renal agenesis, Duodenal atresia, Renal cyst,... ORPHA:464306
Acromelic Frontonasal Dysplasia
Meningocele, Cryptorchidism, Median cleft palate ORPHA:1827
Igg4-Related Kidney Disease
Prostatitis, Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, ... ORPHA:449395
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, High palate, Hydronephrosis, Cleft palate OMIM:612541
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Occipital meningocele, Renal tubular atrophy, Rena... OMIM:243910
Acrocardiofacial Syndrome
Cryptorchidism, Death in infancy, Cleft palate, Anal atresia, Hypoplasia of penis, Hypospadias ORPHA:2008
Holoprosencephaly 3
Bifid uvula, Holoprosencephaly, Hydronephrosis, Cleft palate OMIM:142945
Cardiofaciocutaneous Syndrome
Cryptorchidism, Abnormality of the gastrointestinal tract, Functional abnormality of the gastroin... ORPHA:1340
Frontometaphyseal Dysplasia 1
High palate, Hydronephrosis, Hydroureter OMIM:305620
Koolen-De Vries Syndrome
Cryptorchidism, Narrow palate, Recurrent urinary tract infections, Vesicoureteral reflux, Hydrone... OMIM:610443
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Hydroureter, Intestinal malrotation, Esophageal atresia, Cleft palate, Neona... OMIM:265380
Orofaciodigital Syndrome I
Ovarian cyst, Tongue nodules, Bifid tongue, Polycystic kidney dysplasia, Lobulated tongue, Cleft ... OMIM:311200
Distal Monosomy 12Q
Esophageal atresia, Unilateral cryptorchidism, Duodenal atresia, Vesicoureteral reflux, Ectopic k... ORPHA:96149
Severe Generalized Junctional Epidermolysis Bullosa
Dysuria, Ureteral obstruction, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder, ... ORPHA:79404
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Large placenta, Hydronephrosis, Umbilical hernia ORPHA:254528
Nk-Cell Enteropathy
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... ORPHA:263665
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Cryptorchidism, Holoprosencephaly, Clitoral hypertrophy, Gastroesophageal re... ORPHA:818
Okamoto Syndrome
Unilateral renal hypoplasia, Bifid uterus, Anal stenosis, Gastroesophageal reflux, Intestinal mal... ORPHA:2729
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Macroglossia, Umbilical hernia, Clitoral hypoplasia, Hypoplastic labia majora, Hy... OMIM:268310
Focal Dermal Hypoplasia
Cryptorchidism, Hiatus hernia, Horseshoe kidney, Bifid ureter, Labial hypoplasia, Intestinal malr... OMIM:305600
Sweeney-Cox Syndrome
Gastroesophageal reflux, Bilateral cryptorchidism, Anal atresia, Cleft palate, High palate OMIM:617746
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Dysphagia, Esophageal stricture, Colitis, Ureth... ORPHA:2908
Ileal Neuroendocrine Tumor
Functional intestinal obstruction, Gastrointestinal obstruction, Zollinger-Ellison syndrome, Smal... ORPHA:100078
Jejunal Neuroendocrine Tumor
Functional intestinal obstruction, Gastrointestinal obstruction, Zollinger-Ellison syndrome, Smal... ORPHA:100077
Van Maldergem Syndrome 1
Renal hypoplasia, High palate, Anal atresia, Hypospadias, Anteriorly placed anus OMIM:601390
Mesomelia-Synostoses Syndrome
Short umbilical cord, Hydronephrosis, Absent uvula OMIM:600383
Cardiac Valvular Defect, Developmental
Urethral diverticulum, Hydronephrosis, Hydroureter OMIM:212093
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Megacystis, Pyelonephritis, Anuria, Microcolon, Fetal megacysti... OMIM:619351
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Ankyloglossia, Vesicoureteral reflux, Hydronephrosis, High palate, Hydrocephalus ORPHA:250989
Joubert Syndrome 1
Macroglossia, Nephropathy, Protruding tongue, Renal cyst, Occipital myelomeningocele OMIM:213300
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Protruding tongue, Gastroesophageal reflux, Hydronephrosis OMIM:608779
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Apert Syndrome
Narrow palate, Ovarian neoplasm, Esophageal atresia, Ectopic anus, Cleft palate, Bifid uvula, Hyd... ORPHA:87
Tarp Syndrome
Cryptorchidism, Abnormal duodenum morphology, Horseshoe kidney, Tongue nodules, Hydronephrosis, G... ORPHA:2886
Takenouchi-Kosaki Syndrome
Hypospadias, Cryptorchidism, Unilateral renal agenesis, Hydronephrosis OMIM:616737
Autosomal Recessive Robinow Syndrome
Cryptorchidism, Ankyloglossia, Hypoplastic female external genitalia, Death in infancy, Umbilical... ORPHA:1507
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cryptorchidism, Macroglossia, Branchial anomaly, High, narrow palate, Intestinal pseudo-obstructi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cryptorchidism, Macroglossia, Branchial anomaly, High, narrow palate, Intestinal pseudo-obstructi... ORPHA:352665
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424016
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Macroglossia, Hydroureter, High, narrow palate, Death in infancy, Umbilical herni... ORPHA:373
Cerebrofacioarticular Syndrome
Renal hypoplasia, Hypospadias, Anteriorly placed anus, Anal stenosis ORPHA:314679
Robinow Syndrome
Cryptorchidism, Ankyloglossia, Webbed penis, Scrotal hypoplasia, Umbilical hernia, Multicystic ki... ORPHA:97360
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Functional intestinal obstruction, Gastrointestinal obstruction, Zollinger-... ORPHA:100076
Cardiofaciocutaneous Syndrome 1
Gastroesophageal reflux, Hydronephrosis, High palate, Hydrocephalus, Submucous cleft hard palate OMIM:115150
Curry-Jones Syndrome
Intestinal malrotation, Anal stenosis OMIM:601707
Beare-Stevenson Cutis Gyrata Syndrome
Narrow palate, Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora, Anteriorly place... OMIM:123790
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hamartoma of tongue, Septate vagina, Esophageal diverticulum, Neonatal death, Anal atresia, Uteru... OMIM:617925
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Cryptorchidism, Vesicoureteral reflux, Increased size of the clitoris, High, narrow palate, Micro... ORPHA:95699
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Anal atresia, Hydrocephalus, Umbilical hernia OMIM:612582
Neurofibromatosis, Type I
Aqueductal stenosis, Spina bifida, Renal artery stenosis, Hydrocephalus OMIM:162200
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Furrowed tongue, Hydronephrosis, Cleft palate, Hypospadias, High, ... ORPHA:464738
Abnormal stomach morphology, Myelitis, Acute kidney injury, Intestinal bleeding, Abnormality of t... ORPHA:801
Hydrolethalus Syndrome 1
Bifid uterus, Abnormal vagina morphology, Stillbirth, Arrhinencephaly, Anencephaly, Hydronephrosi... OMIM:236680
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Hydronephrosis, Cleft palate, Hypospadias, Micropenis, Hydrocephalus ORPHA:163979
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Sener Syndrome
High palate, Anteriorly placed anus, Micropenis, Umbilical hernia OMIM:606156
Microphthalmia With Linear Skin Defects Syndrome
Ambiguous genitalia, Abnormal testis morphology, Abnormal penis morphology, Clitoral hypertrophy,... ORPHA:2556
Cartilage-Hair Hypoplasia
Mucopolysacchariduria, Spinal dysraphism, Aganglionic megacolon, Malabsorption ORPHA:175
Floating-Harbor Syndrome
Cryptorchidism, Renal agenesis, Gastroesophageal reflux, Epididymal cyst, Hydronephrosis, Renal c... ORPHA:2044
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Acute kidney injury, Albuminuria, Abnormality o... ORPHA:90291
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Urethrovaginal fistula, Cryptorchidism, Ambiguous genitalia, Renal hypoplasia, Esophageal atresia... ORPHA:93271
Coffin-Siris Syndrome 1
Cryptorchidism, Gastric ulcer, Hydroureter, Renal hypoplasia, Intussusception, Clitoral hypertrop... OMIM:135900
3Mc Syndrome 1
Hydronephrosis, Spina bifida occulta, Cleft palate OMIM:257920
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis, Cleft palate, High palate OMIM:618975
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Cerebrocostomandibular Syndrome
Horseshoe kidney, Anal stenosis, Gastroesophageal reflux, Ectopic kidney, Renal cyst, Glossoptosi... OMIM:117650
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Anal atresia OMIM:616875
Johanson-Blizzard Syndrome
Urethrovaginal fistula, Cryptorchidism, Clitoral hypertrophy, Septate vagina, Rectovaginal fistul... OMIM:243800
Charge Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Horseshoe kidney, Abnormal soft... ORPHA:138
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, High palate, Micropenis, Abnorm... ORPHA:1772
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Anteriorly placed anus, Anal atresia ORPHA:1352
Peters Plus Syndrome
Cryptorchidism, Hydrocephalus, Hypoplasia of the uterus, Intestinal fistula, Umbilical hernia, Mu... ORPHA:709
Ring Chromosome 13 Syndrome
Abnormal renal physiology, Ambiguous genitalia, Urogenital sinus anomaly, Bifid scrotum, High pal... ORPHA:96176
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Cryptorchidism, Multiple small bowel atresias, Ambiguous genitalia, male, Intestinal malrotation,... OMIM:218649
C Syndrome
Cryptorchidism, Horseshoe kidney, High palate, Death in infancy, Multicystic kidney dysplasia, Ab... ORPHA:1308
Acrocallosal Syndrome
Cryptorchidism, High palate, Umbilical hernia, Rectovaginal fistula, Anal atresia, Cleft palate, ... OMIM:200990
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Dysphagia, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Schinzel-Giedion Midface Retraction Syndrome
Macroglossia, Hydroureter, Scrotal hypoplasia, Hypoplastic labia majora, Bicornuate uterus, Hypop... OMIM:269150
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Cleft palate, Ureteral stenosis, High, narrow palate OMIM:272950
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Dysphagia, Hydronephrosis ORPHA:101000
Frontometaphyseal Dysplasia
Ureteral obstruction, Urethral stenosis, Hydronephrosis, Spina bifida occulta, Cleft palate, Bifi... ORPHA:1826
Baller-Gerold Syndrome
Abnormality of the kidney, Perineal fistula, Rectovaginal fistula, Anal atresia, Spina bifida occ... OMIM:218600
Hypoglossia-Hypodactyly Syndrome
Death in infancy, Aplasia/Hypoplasia of the tongue, Jejunal atresia, Anal atresia, Cleft palate, ... ORPHA:989
1P36 Deletion Syndrome
Cryptorchidism, Dysphagia, Gastroesophageal reflux, Renal cyst, Hydronephrosis, Abnormality of fe... ORPHA:1606
15q26 overgrowth syndrome
Horseshoe kidney, High palate, Vesicoureteral reflux, Duplication of renal pelvis, Hydronephrosis... DECIPHER:81
Phaver Syndrome
Myelomeningocele ORPHA:2876
Granulomatosis With Polyangiitis
Prostatitis, Hematuria, Gastrointestinal hemorrhage, Glomerulopathy, Hydronephrosis, Ureteral ste... ORPHA:900
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Sex reversal, Clitoral hypertrophy, Bicornuate uterus, True hermaphroditi... OMIM:400045
Occipital Horn Syndrome
Ureteral obstruction, Hiatus hernia, Bladder diverticulum, Hydronephrosis, High palate OMIM:304150
Mosaic Trisomy 16
Meckel diverticulum, Horseshoe kidney, Abnormality of the gastrointestinal tract, Large placenta,... ORPHA:1708
Distal 22Q11.2 Microduplication Syndrome
Cryptorchidism, Macroglossia, Branchial fistula, Unilateral renal agenesis, Anal atresia, High pa... ORPHA:261337
Townes-Brocks Syndrome
Cryptorchidism, Multiple renal cysts, Abnormality of the uterus, Abnormal vagina morphology, Bifi... ORPHA:857
Eec Syndrome
Urethral atresia, Xerostomia, Cleft palate, Vesicoureteral reflux, Hydronephrosis, Hypospadias, R... ORPHA:1896
Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis ORPHA:2717
Bartsocas-Papas Syndrome 1
Ambiguous genitalia, Anal stenosis, Bilateral cryptorchidism, Absent external genitalia, Hypoplas... OMIM:263650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cryptorchidism, Renal dysplasia, Anal atresia, Cleft palate, Hypoplastic male external genitalia,... OMIM:236670
Microphthalmia, Lenz Type
Cryptorchidism, Hydroureter, Hydronephrosis, Hypospadias, Renal hypoplasia/aplasia ORPHA:568
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Macroglossia, Narrow palate, Umbilical hernia, Clitoral hypoplasia, Hypoplastic l... OMIM:180700
Kindler Syndrome
Oral leukoplakia, Esophageal stenosis, Anal stenosis, Dysphagia, Urethral stenosis, Phimosis OMIM:173650
Tetrasomy 9P
Cryptorchidism, Median cleft lip and palate, Multiple renal cysts, Horseshoe kidney, Oligospermia... ORPHA:3310
Craniofacioskeletal Syndrome
Hypospadias, Cryptorchidism, Hydronephrosis, Cleft palate OMIM:300712
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Cryptorchidism, Anteriorly placed anus, Cleft palate OMIM:217980
Ivic Syndrome
Rectovaginal fistula, Anal atresia, Intestinal malrotation OMIM:147750
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urinary bladder sphincter dysfunction, Gastrointestinal inflammation, Ankyloglossia, Renal amyloi... ORPHA:79408
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypoplasia of the bladder, Sex reversal, Cleft palate, Hypospadias, Renal agenesis OMIM:611812
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Cervical cord compression, Narrow palate, Abnormality of the urinary system, Recu... ORPHA:353281
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Hypospadias, Anal atresia, Ectopic anus, Cleft palate ORPHA:85199
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Cleft palate, Duplicated collecting system, Hydronephrosis OMIM:280000
High palate, Myelomeningocele, Horseshoe kidney, Ambiguous genitalia, male OMIM:607330
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Anal atresia ORPHA:480898
Doors Syndrome
Ambiguous genitalia, Narrow palate, Arrhinencephaly, Sirenomelia, Abnormality of the urinary syst... ORPHA:79500
Cockayne Syndrome Type 3
Neurogenic bladder, Hydroureter, Renal hypoplasia, Gastroesophageal reflux, Unilateral renal agen... ORPHA:90324
Ivic Syndrome
Rectovaginal fistula, Anal atresia ORPHA:2307
3Q29 Microduplication Syndrome
High palate, Ectopic anus, Cleft palate ORPHA:251038
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Ankyloglossia, Esophageal stenosis, Dysphagia, Gastroesophageal reflux, Abnormal esophagus morpho... ORPHA:89842
Orofaciodigital Syndrome Type 1
Tongue nodules, High palate, Hamartoma of tongue, Multicystic kidney dysplasia, Hydronephrosis, L... ORPHA:2750
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis, Stillbirth, Cleft palate OMIM:309350
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Renal agenesis, Anal atresia, Horseshoe kidney OMIM:306955
Orofaciodigital Syndrome Type 4
Renal agenesis, Absent testis, Perineal fistula, Decreased testicular size, Rectovaginal fistula,... ORPHA:2753
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Cryptorchidism, Hydronephrosis ORPHA:444072
Branchioskeletogenital Syndrome
Umbilical hernia, Penoscrotal hypospadias, Absent external genitalia, Bifid uvula, Bladder exstro... ORPHA:1299
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ambiguous genitalia, Ovotestis, Clitoral hypertrophy, External genital hypoplasia, Hypospadias, D... OMIM:610644
Erdheim-Chester Disease
Dysuria, Renal insufficiency, Hydronephrosis, Hypogonadotropic hypogonadism ORPHA:35687
Dyskeratosis Congenita, X-Linked
Oral leukoplakia, Cryptorchidism, Horseshoe kidney, Decreased testicular size, Esophageal strictu... OMIM:305000
Kabuki Syndrome 1
Cryptorchidism, Crossed fused renal ectopia, Anal stenosis, Anoperineal fistula, Intestinal malro... OMIM:147920
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Precocious puberty, Hydronephrosis OMIM:619269
Peters-Plus Syndrome
Cryptorchidism, Renal hypoplasia, Hypoplasia of the uterus, Umbilical hernia, Clitoral hypoplasia... OMIM:261540
Robinow Syndrome, Autosomal Dominant 3